ClinVar Miner

List of variants in gene SHOC2 reported as likely benign for RASopathy

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Gene type:
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Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_007373.4(SHOC2):c.335T>C (p.Ile112Thr) rs201289608 0.00021
NM_007373.4(SHOC2):c.377C>T (p.Thr126Ile) rs138375593 0.00011
NM_007373.4(SHOC2):c.363G>A (p.Glu121=) rs115713408 0.00007
NM_007373.4(SHOC2):c.1239G>T (p.Gln413His) rs200215822 0.00006
NM_007373.4(SHOC2):c.613A>G (p.Thr205Ala) rs768411950 0.00005
NM_007373.4(SHOC2):c.1423-15T>C rs775689426 0.00004
NM_007373.4(SHOC2):c.1541-10T>G rs202207809 0.00004
NM_007373.4(SHOC2):c.1545A>G (p.Thr515=) rs376161380 0.00004
NM_007373.4(SHOC2):c.1731A>G (p.Pro577=) rs370929606 0.00004
NM_007373.4(SHOC2):c.972+11G>T rs201644470 0.00004
NM_007373.4(SHOC2):c.972+8G>C rs748386843 0.00004
NM_007373.4(SHOC2):c.849G>A (p.Leu283=) rs200544176 0.00003
NM_007373.4(SHOC2):c.1164C>T (p.Asp388=) rs544426978 0.00002
NM_007373.4(SHOC2):c.1452C>G (p.Thr484=) rs774870302 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_007373.4(SHOC2):c.618T>G (p.Thr206=) rs772520981 0.00002
NM_007373.4(SHOC2):c.1033T>C (p.Leu345=) rs1220830387 0.00001
NM_007373.4(SHOC2):c.1047T>C (p.Gly349=) rs199869304 0.00001
NM_007373.4(SHOC2):c.1101C>T (p.Ile367=) rs777877344 0.00001
NM_007373.4(SHOC2):c.1161+7A>G rs368326616 0.00001
NM_007373.4(SHOC2):c.1215A>G (p.Val405=) rs749123957 0.00001
NM_007373.4(SHOC2):c.1272C>T (p.Leu424=) rs144379168 0.00001
NM_007373.4(SHOC2):c.1344G>A (p.Arg448=) rs1309539987 0.00001
NM_007373.4(SHOC2):c.1404A>G (p.Ala468=) rs764705344 0.00001
NM_007373.4(SHOC2):c.1447T>C (p.Leu483=) rs539117121 0.00001
NM_007373.4(SHOC2):c.1521T>C (p.Thr507=) rs780849465 0.00001
NM_007373.4(SHOC2):c.1540+12G>A rs369850100 0.00001
NM_007373.4(SHOC2):c.1665C>T (p.His555=) rs1060504382 0.00001
NM_007373.4(SHOC2):c.1704C>A (p.Ile568=) rs1219650171 0.00001
NM_007373.4(SHOC2):c.171C>T (p.Ser57=) rs1554857645 0.00001
NM_007373.4(SHOC2):c.183A>G (p.Gln61=) rs371640183 0.00001
NM_007373.4(SHOC2):c.303T>C (p.Asn101=) rs750568201 0.00001
NM_007373.4(SHOC2):c.319T>C (p.Leu107=) rs1847639079 0.00001
NM_007373.4(SHOC2):c.333T>C (p.Ser111=) rs758161464 0.00001
NM_007373.4(SHOC2):c.354A>G (p.Ser118=) rs1302774310 0.00001
NM_007373.4(SHOC2):c.390A>G (p.Leu130=) rs143895483 0.00001
NM_007373.4(SHOC2):c.704-10C>T rs748271956 0.00001
NM_007373.4(SHOC2):c.841+16G>T rs1228162304 0.00001
NM_007373.4(SHOC2):c.879T>C (p.Tyr293=) rs773817796 0.00001
NM_007373.4(SHOC2):c.981A>G (p.Leu327=) rs1440014484 0.00001
NM_007373.4(SHOC2):c.1023T>C (p.Asn341=)
NM_007373.4(SHOC2):c.1032G>A (p.Gln344=)
NM_007373.4(SHOC2):c.1044G>T (p.Val348=)
NM_007373.4(SHOC2):c.1053A>G (p.Pro351=)
NM_007373.4(SHOC2):c.1092C>T (p.His364=) rs748214044
NM_007373.4(SHOC2):c.1095T>C (p.Asn365=)
NM_007373.4(SHOC2):c.1098A>C (p.Arg366=)
NM_007373.4(SHOC2):c.1152G>A (p.Leu384=)
NM_007373.4(SHOC2):c.1161+15G>C
NM_007373.4(SHOC2):c.1161+9A>C rs201795589
NM_007373.4(SHOC2):c.1162-13T>C
NM_007373.4(SHOC2):c.1162-15T>C
NM_007373.4(SHOC2):c.1162-18T>G
NM_007373.4(SHOC2):c.1162-19T>G
NM_007373.4(SHOC2):c.1162-4C>T
NM_007373.4(SHOC2):c.1162-5G>T
NM_007373.4(SHOC2):c.1176A>G (p.Thr392=)
NM_007373.4(SHOC2):c.1179A>G (p.Ser393=)
NM_007373.4(SHOC2):c.1185C>T (p.Pro395=) rs369036204
NM_007373.4(SHOC2):c.1186T>C (p.Leu396=) rs1554863245
NM_007373.4(SHOC2):c.1219T>C (p.Leu407=)
NM_007373.4(SHOC2):c.1254T>C (p.Pro418=)
NM_007373.4(SHOC2):c.1272C>A (p.Leu424=) rs144379168
NM_007373.4(SHOC2):c.1281T>C (p.Leu427=)
NM_007373.4(SHOC2):c.1284+12T>C rs147007474
NM_007373.4(SHOC2):c.1284+17A>T
NM_007373.4(SHOC2):c.1285-18T>C
NM_007373.4(SHOC2):c.1285-20_1285-18del rs781425507
NM_007373.4(SHOC2):c.1285-5A>C
NM_007373.4(SHOC2):c.1290T>C (p.Leu430=)
NM_007373.4(SHOC2):c.129T>C (p.Pro43=)
NM_007373.4(SHOC2):c.1335A>G (p.Gly445=)
NM_007373.4(SHOC2):c.1347G>A (p.Lys449=)
NM_007373.4(SHOC2):c.1407T>C (p.Tyr469=)
NM_007373.4(SHOC2):c.1422+11T>G
NM_007373.4(SHOC2):c.1422+15G>T
NM_007373.4(SHOC2):c.1422+9_1422+11del rs750754038
NM_007373.4(SHOC2):c.1423-18A>G rs1228751828
NM_007373.4(SHOC2):c.1461C>A (p.Pro487=) rs2134180702
NM_007373.4(SHOC2):c.1485T>C (p.Asn495=)
NM_007373.4(SHOC2):c.1503T>C (p.Leu501=)
NM_007373.4(SHOC2):c.1515A>G (p.Leu505=)
NM_007373.4(SHOC2):c.1518T>G (p.Leu506=)
NM_007373.4(SHOC2):c.1540+18G>A
NM_007373.4(SHOC2):c.1540+8C>A rs771283010
NM_007373.4(SHOC2):c.1540+8C>T rs771283010
NM_007373.4(SHOC2):c.1540+9C>T
NM_007373.4(SHOC2):c.1541-18G>C
NM_007373.4(SHOC2):c.1541-19T>G
NM_007373.4(SHOC2):c.1541-20T>A
NM_007373.4(SHOC2):c.1541-6A>C
NM_007373.4(SHOC2):c.1541-6A>G
NM_007373.4(SHOC2):c.1541-7T>A rs1564732053
NM_007373.4(SHOC2):c.1557A>G (p.Leu519=)
NM_007373.4(SHOC2):c.1566G>C (p.Leu522=)
NM_007373.4(SHOC2):c.1602C>G (p.Pro534=)
NM_007373.4(SHOC2):c.1608G>A (p.Glu536=) rs2134183063
NM_007373.4(SHOC2):c.1614A>G (p.Ala538=)
NM_007373.4(SHOC2):c.1656A>C (p.Pro552=) rs2134183125
NM_007373.4(SHOC2):c.1674T>G (p.Pro558=) rs1554863867
NM_007373.4(SHOC2):c.1692G>A (p.Gly564=) rs2134183184
NM_007373.4(SHOC2):c.1695T>A (p.Pro565=)
NM_007373.4(SHOC2):c.186A>C (p.Pro62=)
NM_007373.4(SHOC2):c.192G>A (p.Val64=) rs1185076769
NM_007373.4(SHOC2):c.210T>C (p.Asn70=)
NM_007373.4(SHOC2):c.213G>A (p.Thr71=)
NM_007373.4(SHOC2):c.240G>T (p.Gly80=) rs2134121303
NM_007373.4(SHOC2):c.261T>C (p.Asn87=)
NM_007373.4(SHOC2):c.270G>A (p.Val90=)
NM_007373.4(SHOC2):c.27A>G (p.Lys9=)
NM_007373.4(SHOC2):c.348A>G (p.Pro116=)
NM_007373.4(SHOC2):c.351A>C (p.Ser117=) rs1847640105
NM_007373.4(SHOC2):c.364T>C (p.Leu122=)
NM_007373.4(SHOC2):c.408G>A (p.Gln136=)
NM_007373.4(SHOC2):c.423G>A (p.Glu141=) rs1847641416
NM_007373.4(SHOC2):c.441T>C (p.Asn147=) rs2134121592
NM_007373.4(SHOC2):c.450A>G (p.Thr150=)
NM_007373.4(SHOC2):c.451C>T (p.Leu151=)
NM_007373.4(SHOC2):c.459A>G (p.Leu153=)
NM_007373.4(SHOC2):c.468T>C (p.Asn156=)
NM_007373.4(SHOC2):c.471A>G (p.Ser157=)
NM_007373.4(SHOC2):c.489C>T (p.Asp163=)
NM_007373.4(SHOC2):c.591T>C (p.Leu197=)
NM_007373.4(SHOC2):c.600C>G (p.Arg200=) rs1188255409
NM_007373.4(SHOC2):c.636A>G (p.Lys212=)
NM_007373.4(SHOC2):c.645A>G (p.Ser215=) rs2134121976
NM_007373.4(SHOC2):c.660T>C (p.Leu220=) rs1342653646
NM_007373.4(SHOC2):c.663C>T (p.Ser221=)
NM_007373.4(SHOC2):c.703+15ATT[5]
NM_007373.4(SHOC2):c.703+17T>G
NM_007373.4(SHOC2):c.703+8G>A
NM_007373.4(SHOC2):c.711A>G (p.Leu237=)
NM_007373.4(SHOC2):c.720C>A (p.Leu240=) rs759714493
NM_007373.4(SHOC2):c.726G>A (p.Thr242=)
NM_007373.4(SHOC2):c.726G>T (p.Thr242=)
NM_007373.4(SHOC2):c.741C>T (p.His247=) rs1264093977
NM_007373.4(SHOC2):c.774A>G (p.Gly258=) rs753237615
NM_007373.4(SHOC2):c.786G>A (p.Gln262=)
NM_007373.4(SHOC2):c.801C>T (p.Asp267=)
NM_007373.4(SHOC2):c.825C>T (p.Asp275=)
NM_007373.4(SHOC2):c.841+13A>G rs1848065425
NM_007373.4(SHOC2):c.841+7G>A rs2134149305
NM_007373.4(SHOC2):c.842-16T>G
NM_007373.4(SHOC2):c.842-16_842-15insG
NM_007373.4(SHOC2):c.842-20T>G rs2134168524
NM_007373.4(SHOC2):c.843A>T (p.Gly281=)
NM_007373.4(SHOC2):c.84A>C (p.Ala28=) rs753165612
NM_007373.4(SHOC2):c.873G>A (p.Leu291=)
NM_007373.4(SHOC2):c.888G>C (p.Leu296=) rs2134168611
NM_007373.4(SHOC2):c.90C>T (p.Ala30=)
NM_007373.4(SHOC2):c.912A>G (p.Ala304=) rs2134168641
NM_007373.4(SHOC2):c.927T>C (p.Leu309=)
NM_007373.4(SHOC2):c.951T>C (p.Asn317=)
NM_007373.4(SHOC2):c.972+11del
NM_007373.4(SHOC2):c.972+12A>G rs913524232
NM_007373.4(SHOC2):c.972+16G>A
NM_007373.4(SHOC2):c.972+19A>G
NM_007373.4(SHOC2):c.979T>C (p.Leu327=) rs1239801718

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